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Choanal Atresia
Choanal Atresia
Author
Ted L Tewfik, MD Professor of Otolaryngology-Head and Neck Surgery, Professor of Pediatric
Surgery, McGill University Faculty of Medicine; Senior Staff, Montreal Children's Hospital,
Montreal General Hospital, and Royal Victoria Hospital
BACKGROUND
Complete nasal obstruction in a newborn may cause death from asphyxia. During
attempted inspiration, the tongue is pulled to the palate, and obstruction of the oral airway
results. Vigorous respiratory efforts produce marked chest retraction. Increased cyanosis and
death may occur if appropriate treatments are not available; however, if the infant cries and takes
a breath through the mouth, the airway obstruction is momentarily relieved. Then the crying
stops, the mouth closes, and the cycle of obstruction is repeated.
Choanal atresia is depicted in the image below.
EPIDEMIOLOGY
Frequency
The average rate of choanal atresia is 0.82 cases per 10,000 individuals. Unilateral atresia
occurs more frequently on the right side. The ratio of unilateral to bilateral cases is 2:1. A
slightly increased risk exists in twins. Maternal age or parity does not increase the frequency of
occurrence. Chromosomal anomalies are found in 6% of infants with choanal atresia. Five
percent of patients have monogenic syndromes or conditions.
Race: Choanal atresia occurs with equal frequency in people of all races.
Sex: More studies report significantly more females than males affected.
ETIOLOGY
The nasal cavities extend posteriorly during development under the influence of the
posteriorly directed fusion of the palatal processes. Thinning of the membrane occurs, which
separates the nasal cavities from the oral cavity. By the 38th day of development, the 2-layer
membrane consisting of nasal and oral epithelia ruptures and forms the choanae (posterior nares).
Failure of this rupture results in choanal atresia. Although these choanae are not in the same
location as the definitive choanae, which are eventually located more posteriorly, the
unexpectedly anterior extent of choanal atresia is explained.
In 2008, Barbero et al suggested that prenatal use of antithyroid (methimazole,
carbimazole) medications was linked to choanal atresia.[1]
Lee et al (2012) evaluated the association between continuous and categorical infant
T4 levels and nonsyndromic choanal atresia.[2] They suggest a role of low thyroid hormone levels
in the development of choanal atresia, or that low newborn T4 levels are potential proxy
measures of a risk factor present during the critical period of development.
Using data published data from the National Birth Defects Prevention Study, Kancherla et al
(2014) found evidence linking choanal atresia to maternal exposure to various nutrients, thyroid
medications, and cigarettes. The investigators looked at prepregnancy exposures (within 1 year
prior to conception) and periconceptual exposure (between 1 month before and 3 months after
conception) in 117 women who gave birth to infants with choanal atresia and 8350 control
mothers. Positive associations were found between the following prepregnancy exposures and
choanal atresia[3] :
Intake in the highest quartile: Vitamin B-12, zinc, niacin
Intake in the lowest quartile: Methionine, vitamin D
Coffee (≥ 3 cups per day)
Positive associations were also found between the following periconceptual exposures and
choanal atresia:
Thyroid medications
Cigarette smoking
PATHOPHYSIOLOGY
A number of theories have been proposed to explain the occurrence of choanal atresia, and
they can be summarized as follows:
Persistence of the buccopharyngeal membrane
Failure of the bucconasal membrane of Hochstetter to rupture
Medial outgrowth of vertical and horizontal processes of the palatine bone
Abnormal mesodermal adhesions forming in the choanal area
Misdirection of mesodermal flow due to local factors
PRESENTATION
The clinical evaluation includes a complete physical examination to assess for other
congenital anomalies. A small feeding tube could be used to determine the patency of the
choana, but a complete nasal and nasopharyngeal examination should be performed using a
flexible fiberoptic endoscope to assess the deformity. A simple method using the automatic
tympanometer to screen newborns for congenital choanal atresia was recently published. The
sensitivity and specificity of the technique in diagnosing a patent nostril was reported as 100%.
However, a high level of suspicion is required to diagnose bilateral choanal atresia.
Symptoms of severe airway obstruction and cyclical cyanosis are the classic signs of
neonatal bilateral atresia. When crying alleviates respiratory distress in an obligate nasal
breather, the neonatologist should be alerted to the probability of bilateral choanal atresia.
Unilateral atresia may not be detected for years, and patients may present with unilateral
rhinorrhea or congestion.
Many patients have an associated narrowed nasopharynx, widened vomer, medialized
lateral nasal wall, and/or arched hard palate. Associated malformations occur in 47% of infants
without chromosome anomalies. Nonrandom association of malformations can be demonstrated
using the CHARGE association, which appears to be overused in clinical practice. The
components of the CHARGE association are as follows:
Coloboma of the iris, choroid, and/or microphthalmia
Heart defect such as atrial septal defect (ASD) and/or conotruncal lesion
Atresia of choanae
Retarded growth and development
Genitourinary abnormalities such as cryptorchidism, microphallus, and/or hydronephrosis
Ear defects with associated deafness (The external, middle, and/or inner ear may be involved.
Only a small proportion of infants with choanal atresia and related components probably
represent this entity.)
The percentages of the different anomalies in CHARGE association are as follows:
Coloboma - 80%
Heart defect - 58%
Atresia of choanae - 100%
Mental retardation - 94%
Growth deficiency - 87%
Genital hypoplasia in males - 75%
Ear anomalies - 88%
Differential diagnosis